SHANK2

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

本基因编码的蛋白质属于突触蛋白Shank家族的一员，该家族蛋白可能在兴奋性突触后密度中充当分子支架。Shank蛋白含有多个蛋白质-蛋白质相互作用结构域，包括锚蛋白重复序列和SH3结构域。本家族成员含有PDZ结构域、cortactin SH3结构域结合肽的共识序列以及无菌α结构域。Shank基因中展现的剪接变异已被提出作为调控Shank分子结构和成年及发育期脑中突触后密度内Shank相互作用蛋白谱的机制。编码蛋白的变异可能与自闭症谱系障碍的易感性相关。剪接变异导致多种转录本变体。[由RefSeq提供，2014年2月]